Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Surg Proced. Mar 28, 2016; 6(1): 13-18
Published online Mar 28, 2016. doi: 10.5412/wjsp.v6.i1.13
Should multi-gene panel testing replace limited BRCA1/2 testing? A review of genetic testing for hereditary breast and ovarian cancers
Nimmi S Kapoor, Kimberly C Banks
Nimmi S Kapoor, Department of Surgical Oncology, Breastlink, Orange, CA 92868, United States
Kimberly C Banks, Medical Science Liason, Guardant Health, Redwood City, CA 94063, United States
Author contributions: Kapoor NS designed, wrote, and edited this manuscript; Banks KC wrote and edited this manuscript.
Conflict-of-interest statement: Kapoor NS has received honoraria for serving as a speaker for Ambry Genetics and Banks KC was previously employed by Ambry Genetics.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Nimmi S Kapoor, MD, Director, Department of Surgical Oncology, Breastlink, 230 S. Main Street, Suite 100, Orange, CA 92868, United States.
Telephone: +1-714-6193308 Fax: +1-714-5410450
Received: August 22, 2015
Peer-review started: August 23, 2015
First decision: October 27, 2015
Revised: December 12, 2015
Accepted: January 5, 2016
Article in press: January 7, 2016
Published online: March 28, 2016
Core Tip

Core tip: Evaluating multiple genes in a panel test has clear advantages over BRCA1/2 testing including a greater likelihood of identifying patients with actionable pathogenic mutations, improved efficiency over sequential testing, and lower overall cost. At the same time, panel testing comes with limitations; most notably a lack of clear management guidelines for mutations in moderate penetrance genes and limited evidence-based clinical validity. As more information is gathered on these moderate- and low-penetrance gene mutations, the ability to guide clinical decisions for patients will continue to improve.